Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
The 1-13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.
Welsink-Karssies MM et al.
Journal of Inherited Metabolic Disease, 2020
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Welsink-Karssies MM et al.
Molecular Genetics and Metabolism, 2020
Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research.
van Weeghel M et al.
Orphanet Journal of Rare Diseases, 2018
Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes.
Welling L et al.
Molecular Genetics and Metabolism, 2017
Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.
Boutron A et al.
Molecular Genetics and Metabolism, 2012
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